Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001031963 | SCV001195270 | pathogenic | Duchenne muscular dystrophy | 2022-09-19 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 43 of the DMD gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791, 25007885). A similar copy number variant has been observed in individual(s) with DMD-related muscular dystrophy (PMID: 8543940, 11381192, 18353051, 18752307). For these reasons, this variant has been classified as Pathogenic. |